Testicular chromosomal mosaicism and infertility.

ABSTRACT

PIP: The study of a patient with testicular chromosomal mosaicism and inf ertility is reported. A healthy 27-year-old man with azoospermia and no other endocrinological abnormalities was shown to have chromosomal mosaicism with the cytogenetic errors found only in testicular tissue. 3 clones of cells were identified in both meiosis 1 and meiosis 2 by cytogenetic analysis of direct testicular smears. No abnormalities were revealed in peripheral blood karyotypes or buccal smear preparations. It is postulated that the gonadal cytogenetic defects account for the azoospermia in this patient and that this type of incomplete spermatogenesis produces sufficient feedback material ("inhibin") so that follicle stimulating hormone levels are not affected.